Avaliação do programa de triagem neonatal de São José do Rio Preto no período de 2005 a 2007

Abstract

The neonatal screening is methodology populational specific screening if year old age from 0 to 30 days the of life that allow the early diagnostic of diseases like Congenital Hypothyroidism, Phenylketonuria, Sickle Cell Anaemia and others haemoglobinopathies as a preventive action and specific treatment to reduce or elimination of disorders associated to these diseases. Objective: To evaluate the profile of the Neonatal Screening Program in Sao José do Rio Preto - SP. Methods: Retrospective study based on Association of the Parents and Friends of the Handicapped from Sao Paulo (APAE-SP) database, based on the principle of all the collected exams in live births from January 2005 to December 2007. Data for the profile related to sample characteristics, program coverage, exams numbers and estimated number of live births were obtained from the APAE-SP Laboratory, the data from the comparative analysis were obtained from hospitals collecting and Health Department of that city in the period. Results: Of a total of 17,494 children 51.5% were female and 48.4% were male. Samples were collected after 7 days of life in 62.5% of the sample. The average time to recievement of results was 28.2 days. In the sample studied, 435 showed altered results, and 5 cases (0.03%) of Congenital Hypothyroidism (incidence of 1:3,499), 2 cases (0.01%) of Phenylketonuria (incidence of 1:8747) and 428 cases of Hemoglobinopathies (incidence of 1:40,874) with a single case (0.006%) of sickle cell disease (incidence 1:17,494). Conclusion: Although the study demonstrate that within the period recommended as suitable for the collection process, shipment of samples and delivery of results, it s necessary to develop strategies to improving the structure, the dissemination of the neonatal program, orientation the parents of the importance of "foot test" and greater involvement of health managers.